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leukocyte adhesion deficiency-2

Genetics: autosomal recessive Pathology: -> impaired phagocyte rolling along endothelium Clinical manifestations: 1) severe mental retardation 2) short stature 3) recurrent infections 4) periodontal disease Laboratory: 1) Bombay (hh) blood phenotype 2) granulocytosis 3) reduced phagocyte expression of sialyl-Lewis, using monoclonal antibodies against CD15s 4) see ARUP consult [2]

Related

Bombay phenotype Lewis blood group locus

Specific

congenital disorder of glycosylation type 2C (CDG2C);

General

leukocyte adhesion deficiency

References

  1. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 356
  2. ARUP Consult: Leukocyte Adhesion Deficiency The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/leukocyte-adhesion-deficiency